Congenital neutropaenia
Gene: WASEnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 11 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 10:01 a.m.
Tracy Briggs (Manchester Genomic Medicine Centre)
Peter Arkwright (Royal Manchester Foundation Trust)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Three expert reviews recommend Green. Found in 1/4 sources. Three variants reported in the literature in three unrelated families with Neutropenia, severe congenital, X-linked, 300299Created: 25 May 2016, 8:55 a.m.
Sophie Hambleton (Newcastle University)
Gain of function variants of WAS cause neutropenia (disruption of autoinhibition).
LOF variants cause the allelic disorders X-linked thrombocytopenia and Wiskott Aldrich SyndromeCreated: 19 Oct 2015, 10:23 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
severe congenital neutropenia; myelodysplasia
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Literature
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neutropenia, severe congenital, X-linked, 300299
- Tags
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Haematological malignancies cancer susceptibility
- Inherited bleeding disorders
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Wiskott-Aldrich syndrome
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for WAS were set to 11242115; 16804117
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for WAS were set to Neutropenia, severe congenital, X-linked, 300299
Upload gene information
Sarah Leigh (Genomics England Curator)WAS was added to Congenital neutropaeniapanel. Sources: Literature
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()WAS was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen